Title |
Number of rare germline CNVs and TP53 mutation types
|
---|---|
Published in |
Orphanet Journal of Rare Diseases, December 2012
|
DOI | 10.1186/1750-1172-7-101 |
Pubmed ID | |
Authors |
Amanda G Silva, Maria Isabel Waddington Achatz, Ana CV Krepischi, Peter L Pearson, Carla Rosenberg |
Abstract |
The Li-Fraumeni syndrome (LFS), an inherited rare cancer predisposition syndrome characterized by a variety of early-onset tumors, is caused by different highly penetrant germline mutations in the TP53 gene; each separate mutation has dissimilar functional and phenotypic effects, which partially clarifies the reported heterogeneity between LFS families. Increases in copy number variation (CNV) have been reported in TP53 mutated individuals, and are also postulated to contribute to LFS phenotypic variability. The Brazilian p.R337H TP53 mutation has particular functional and regulatory properties that differ from most other common LFS TP53 mutations, by conferring a strikingly milder phenotype. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 34 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 8 | 24% |
Researcher | 6 | 18% |
Student > Ph. D. Student | 6 | 18% |
Student > Bachelor | 3 | 9% |
Student > Doctoral Student | 2 | 6% |
Other | 7 | 21% |
Unknown | 2 | 6% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 11 | 32% |
Biochemistry, Genetics and Molecular Biology | 10 | 29% |
Medicine and Dentistry | 8 | 24% |
Nursing and Health Professions | 2 | 6% |
Sports and Recreations | 1 | 3% |
Other | 0 | 0% |
Unknown | 2 | 6% |